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Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy.
PLoS One. 2014 Jun 20;9(6):e100191. doi: 10.1371/journal.pone.0100191. eCollection 2014.
PLoS One. 2014.
PMID: 24950249
Free PMC article.
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
Chaiyasap P, Ittiwut C, Srichomthong C, Sangsin A, Suphapeetiporn K, Shotelersuk V.
Chaiyasap P, et al.
BMC Med Genet. 2017 Sep 16;18(1):102. doi: 10.1186/s12881-017-0464-x.
BMC Med Genet. 2017.
PMID: 28915855
Free PMC article.
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